Mitochondrial Myopathies

Mitochondrial Myopathies

Monica P. Revelo, MD, PhD

Dylan V. Miller, MD

H&E-stained section in low magnification shows myocardium with focal vacuolar change in the myocytes image. Significant fibrosis is not present.

H&E-stained section at higher magnification shows myocytes with fine vacuoles within the cytoplasm image. This change is not specific but is seen in mitochondrial myopathies.



Genetic Disorders

  • Kearns-Sayre syndrome (KSS): Heteroplasmic single deletion of mtDNA with reduction in cytochrome C oxidase (COX)

  • Myoclonic epilepsy with ragged red fibers (MERRF): tRNA gene for lysine (MT-TK), A8344G

  • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS): A3243G, tRNA-Leu (MT-TL1) gene

  • Leber hereditary optic neuropathy (LHON): Homoplasmic point mutation in ND4 protein-coding subunit, position G11778A



Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Mitochondrial Myopathies

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